Phenotypes associated with the disease central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease (OMIM:209880, an entry in Online Mendelian Inheritance in Man):
- Downslanted palpebral fissures (HP:0000494, a Human Phenotype Ontology term): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: IEA. (OMIM:209880)
- Ganglioneuroblastoma (HP:0006747, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/20. (PMID:12640453)
- Ganglioneuroma (HP:0003005, a Human Phenotype Ontology term): A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells. Evidence: TAS. (OMIM:209880)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 24/27. (PMID:15121777)
- Ineffective esophageal peristalsis (HP:0031857, a Human Phenotype Ontology term): Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus. Evidence: PCS. Frequency: 4/20. (PMID:12640453)
- Feeding difficulties (HP:0011968, a Human Phenotype Ontology term): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. (OMIM:209880)
- Hypoventilation (HP:0002791, a Human Phenotype Ontology term): A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). Evidence: PCS. Frequency: 20/20. (PMID:12640453)
- Aganglionic megacolon (HP:0002251, a Human Phenotype Ontology term): An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. Evidence: PCS. Frequency: 17/57. (PMID:14566559;PMID:12640453;PMID:15121777)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 8/10. (PMID:14566559)
- Hypercapnia (HP:0012416, a Human Phenotype Ontology term): Abnormally elevated blood carbon dioxide (CO2) level. Evidence: IEA. (OMIM:209880)
- Abnormality of temperature regulation (HP:0004370, a Human Phenotype Ontology term): An abnormality of temperature homeostasis. Evidence: TAS. (OMIM:209880)
- Decreased heart rate variability (HP:0031861, a Human Phenotype Ontology term): Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. Evidence: PCS. Frequency: 14/16. (PMID:12640453)
- Hypoxemia (HP:0012418, a Human Phenotype Ontology term): An abnormally low level of blood oxygen. Evidence: IEA. (OMIM:209880)
- Abnormal autonomic nervous system physiology (HP:0012332, a Human Phenotype Ontology term): A functional abnormality of the autonomic nervous system. Evidence: PCS. (PMID:15121777)
- Central hypoventilation (HP:0007110, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 27/27. (PMID:15121777)
- Chronic constipation (HP:0012450, a Human Phenotype Ontology term): Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. Evidence: PCS. Frequency: 5/30. (PMID:14566559;PMID:12640453)
- Hyperhidrosis (HP:0000975, a Human Phenotype Ontology term): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. (OMIM:209880)
- Nocturnal hypoventilation (HP:0002877, a Human Phenotype Ontology term): An abnormal reduction in alveolar ventilation occurring during sleep. This is characterized by a rise in arterial carbon dioxide. Evidence: PCS. Frequency: 10/10. (PMID:14566559)
- Apnea (HP:0002104, a Human Phenotype Ontology term): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: IEA. (OMIM:209880)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:12640453)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: IEA. (OMIM:209880)
- Neuroblastoma (HP:0003006, a Human Phenotype Ontology term): Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. Evidence: PCS. Frequency: 1/20. (PMID:12640453)
- Posteriorly rotated ears (HP:0000358, a Human Phenotype Ontology term): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: IEA. (OMIM:209880)
- Neonatal onset (HP:0003623, a Human Phenotype Ontology term): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/10. (PMID:14566559)